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Genomic Analysis Package

The document outlines the genomic analysis package offered by VarSome, detailing a three-step process for variant evaluation and analysis using in-house algorithms and external databases. It highlights the capabilities of VarSome Clinical for variant discovery and classification from various sample types, as well as the use of dynamic filters for identifying significant variants. Additionally, it mentions other genomic resources and provides links to relevant workflows and software providers.

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Le Doan
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40 views8 pages

Genomic Analysis Package

The document outlines the genomic analysis package offered by VarSome, detailing a three-step process for variant evaluation and analysis using in-house algorithms and external databases. It highlights the capabilities of VarSome Clinical for variant discovery and classification from various sample types, as well as the use of dynamic filters for identifying significant variants. Additionally, it mentions other genomic resources and provides links to relevant workflows and software providers.

Uploaded by

Le Doan
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PPTX, PDF, TXT or read online on Scribd
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Genomic analysis

package
DNA Medical Technology
Oct 2019
VARSOME
• 1ST STEP: try with 1-2 tough case  valuate its effective
• 2nd for easy samples  run in-house algorithm
• 3rd Nam Hương  automatic  mine from Clinvar  InterVar  (gene
panel)

• Pricing
https://docs.varsome.com/price-for-vcf-sample-explained
VarSome Clinical
• Upload Illumina FASTQ/VCF files for variant
discovery, annotation, and classification.
• Analysis for multiple samples, such as risk
carrier screening for couples, analysis of tumor-
normal samples, studies of trios and families or
comparative analysis of families of any size or
small cohorts.
• Apply sophisticated dynamic and/or
algorithmic filters to quickly find the causative Varsome’s big data
Varsome’s ACMG
variants, or other variants of interest.
• Joint calling (cohort) https://blog.varsome.com/varsome-big-data
https://software.broadinstitute.org/gatk/docu
mentation/article?id=11019
Other packages
• Human Gene Mutation Database (HGMD)

• Rodney’s Group

• https://www.goldenhelix.com/
Review- Current Variant Calling
Workflow
• https://genomebiology.biomedcentral.com/articles/10.1186/s13059-019-1763-7

• https://www.biorxiv.org/content/10.1101/396325v1

• https://software.broadinstitute.org/gatk/documentation/article?id=11019

• Lists of Genomics Software/Service Providers:


http://grouthbio.com/Genome_Software_Service.php

• For RARE disease


https://www.raregenomics.org/publications

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